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Related Concept Videos

DNA Helicases00:55

DNA Helicases

23.5K
DNA unwinding helicase enzymes are a type of motor protein. Motor proteins can translocate along filaments or polymers using energy generated from ATP hydrolysis. Helicases are involved in all the important cellular processes where DNA unwinding is required, such as DNA replication, repair, recombination, and transcription. They are present in all living organisms, but vary in their structure, function, and mechanism of action. For example, in prokaryotes, DnaB helicase binds and translocates...
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Homologous Recombination02:31

Homologous Recombination

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The basic reaction of homologous recombination (HR) involves two chromatids that contain DNA sequences sharing a significant stretch of identity. One of these sequences uses a strand from another as a template to synthesize DNA in an enzyme-catalyzed reaction. The final product is a novel amalgamation of the two substrates. To ensure an accurate recombination of sequences, HR is restricted to the S and G2 phases of the cell cycle. At these stages, the DNA has been replicated already and the...
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Homologous Recombination02:31

Homologous Recombination

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Restarting Stalled Replication Forks02:37

Restarting Stalled Replication Forks

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DNA replication is initiated at sites containing predefined DNA sequences known as origins of replication. DNA is unwound at these sites by the minichromosome maintenance (MCM) helicase and other factors such as Cdc45 and the associated GINS complex.The unwound single strands are protected by replication protein A (RPA) until DNA polymerase starts synthesizing DNA at the 5’ end of the strand in the same direction as the replication fork. To prevent the replication fork from falling apart,...
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DNA Topoisomerases02:02

DNA Topoisomerases

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Topoisomerases are enzymes that relax overwound DNA molecules during various cell processes, including DNA replication and transcription. These enzymes regulate positive and negative DNA supercoiling without changing the nucleotide sequence. DNA overwinding in a clockwise direction results in positively supercoiled DNA, whereas underwinding in a counterclockwise direction produces negatively supercoiled DNA.
Types and Mechanism of action
Topoisomerases are divided into two main types. ...
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DNA Damage can Stall the Cell Cycle02:36

DNA Damage can Stall the Cell Cycle

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In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
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Related Experiment Video

Updated: Dec 12, 2025

Assessment of Global DNA Double-Strand End Resection using BrdU-DNA Labeling coupled with Cell Cycle Discrimination Imaging
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Assessment of Global DNA Double-Strand End Resection using BrdU-DNA Labeling coupled with Cell Cycle Discrimination Imaging

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RECQ DNA Helicases and Osteosarcoma.

Linchao Lu1, Weidong Jin2, Lisa L Wang3

  • 1Department of Pediatrics, Section of Hematology/Oncology, Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX, USA. linchaol@bcm.edu.

Advances in Experimental Medicine and Biology
|August 9, 2020
PubMed
Summary

Rothmund-Thomson syndrome (RTS), linked to RECQL4 gene mutations, increases osteosarcoma risk. Understanding RECQL4

Keywords:
Bloom syndromeDNA helicaseGenomic instabilityOsteosarcomaRECQRECQL4RTSRothmund-Thomson syndromeWerner syndrome

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Area of Science:

  • Genetics and Molecular Biology
  • Genomic Stability and Cancer Pathogenesis

Background:

  • The RECQ family of DNA helicases is crucial for maintaining genomic stability.
  • Mutations in human RECQ helicase genes (BLM, WRN, RECQL4) cause genetic disorders: Bloom syndrome, Werner syndrome, and Rothmund-Thomson syndrome (RTS).
  • These syndromes share clinical features and are associated with increased cancer risk, with RTS patients having a high risk of osteosarcoma.

Purpose of the Study:

  • To investigate the cellular functions of RECQL4 and their relation to tumorigenesis.
  • To explore RECQL4's in vivo functions using animal models.
  • To understand RECQ pathways for potential novel cancer therapies.

Main Methods:

  • Focus on cellular functions of RECQL4.
  • Utilize animal models to study RECQL4 functions in vivo.
  • Investigate RECQ pathways.

Main Results:

  • The chapter focuses on the known cellular functions of RECQL4.
  • Ongoing efforts are underway to understand RECQL4's functions in vivo using animal models.
  • The tumor suppressor role of RECQ helicases is under active investigation.

Conclusions:

  • Rothmund-Thomson syndrome (RTS) serves as a model for studying osteosarcoma pathogenesis due to its high associated risk.
  • Understanding RECQL4's cellular and in vivo functions is key to elucidating its role in tumorigenesis.
  • Insights into RECQ pathways may lead to future cancer therapeutic strategies.